Round-up, Jan 10th – 26th

Jan 11th-14th was the JPMorgan conference, with several announcements coming from the annual gathering of biotech top brass.

Ilumina announced Grail, a product that will attempt to detect early stage cancer from blood. Isn’t this stepping on their customers’ toes? Their CEO Flatley on this point: “In this case, we didn’t think the market could do it fast enough, unless we destroyed our [business] by giving away sequencing. We don’t think anyone else can do it at scale. And there are millions of lives at stake.” The project will involve Clinical trails of >30,000 people; $100m investment; test available 2019. http://www.technologyreview.com/news/545326/illuminas-bid-to-beat-cancer-with-dna-tests/

And while still on the subject of cancer, NCI-Match is a basket trail for precision medicine cancer therapies: you send in your sample, it assigns you to a trial based on the variants. Its been very popular, but had spectacularly low matching rates to date. Genomeweb’s piece is an interesting read: https://www.genomeweb.com/molecular-diagnostics/nci-match-sees-lots-enthusiasm-initial-months-not-many-matches. Comparison point to current start of the art: “At Mass General, where doctors routinely perform next-generation sequencing on metastatic cancer patients and have access to an extensive portfolio of studies that they could potentially place patients in, more than 40 percent of patients receive actionable results.”

Here’s a study that investigates over 4000 genes are only expressed on one chromosome (relevant for interpreting a heterozygous loss of function variant), which reports that these genes are subject to a lot of intra-human variation — you often see high frequency variants in these genes. http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3493.html.